Product Details

SNP ID

rs114744558

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:138500410 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATTAGGTCATCACCTAATTCTAAG[A/T]GTTCTTGGAGGTTTCTCACAGCATT

Phenotype

MIM: 614310

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CEP70 PubMed Links

Gene Details

Gene

CEP70

Gene Name

centrosomal protein 70

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288964.1	1891	Missense Mutation	CAC,CTC	H491L	NP_001275893.1
NM_001288965.1	1891	Missense Mutation	CAC,CTC	H489L	NP_001275894.1
NM_001288966.1	1891	Missense Mutation	CAC,CTC	H509L	NP_001275895.1
NM_001288967.1	1891	Missense Mutation	CAC,CTC	H357L	NP_001275896.1
NM_001320598.1	1891	Missense Mutation	CAC,CTC	H509L	NP_001307527.1
NM_001320599.1	1891	Missense Mutation	CAC,CTC	H509L	NP_001307528.1
NM_001320600.1	1891	Intron			NP_001307529.1
NM_024491.3	1891	Missense Mutation	CAC,CTC	H509L	NP_077817.2
XM_005247805.3	1891	Missense Mutation	CAC,CTC	H509L	XP_005247862.1
XM_011513209.2	1891	Intron			XP_011511511.1
XM_017007270.1	1891	Missense Mutation	CAC,CTC	H509L	XP_016862759.1
XM_017007271.1	1891	Missense Mutation	CAC,CTC	H509L	XP_016862760.1
XM_017007272.1	1891	Missense Mutation	CAC,CTC	H509L	XP_016862761.1
XM_017007273.1	1891	Missense Mutation	CAC,CTC	H489L	XP_016862762.1
XM_017007274.1	1891	Missense Mutation	CAC,CTC	H489L	XP_016862763.1
XM_017007275.1	1891	Missense Mutation	CAC,CTC	H509L	XP_016862764.1
XM_017007276.1	1891	Missense Mutation	CAC,CTC	H391L	XP_016862765.1
XM_017007277.1	1891	Missense Mutation	CAC,CTC	H357L	XP_016862766.1
XM_017007278.1	1891	Missense Mutation	CAC,CTC	H333L	XP_016862767.1
XM_017007279.1	1891	Missense Mutation	CAC,CTC	H283L	XP_016862768.1
XM_017007280.1	1891	Missense Mutation	CAC,CTC	H250L	XP_016862769.1
XM_017007281.1	1891	Missense Mutation	CAC,CTC	H250L	XP_016862770.1
XM_017007282.1	1891	Missense Mutation	CAC,CTC	H250L	XP_016862771.1
XM_017007283.1	1891	Missense Mutation	CAC,CTC	H250L	XP_016862772.1
XM_017007284.1	1891	Missense Mutation	CAC,CTC	H250L	XP_016862773.1

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